ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1357del (p.Ser453fs)

dbSNP: rs2077412367
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001056523 SCV001220968 pathogenic Familial hypercholesterolemia 2021-07-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 851998). This variant has not been reported in the literature in individuals affected with LDLR-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser453Alafs*54) in the LDLR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073).

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